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Search results 301 to 324 out of 324 for Kmt2d

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Type Details Score
Publication      
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
Publication      
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
Publication      
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
Publication      
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
Publication      
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
Publication
First Author: Sanghrajka RM
Year: 2023
Journal: iScience
Title: KMT2D suppresses Sonic hedgehog-driven medulloblastoma progression and metastasis.
Volume: 26
Issue: 10
Pages: 107831
HT Experiment  
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: GEO
Publication
First Author: Pan Y
Year: 2023
Journal: Cancer Cell
Title: KMT2D deficiency drives lung squamous cell carcinoma and hypersensitivity to RTK-RAS inhibition.
Volume: 41
Issue: 1
Pages: 88-105.e8
HT Experiment
Series Id: GSE74679
Experiment Type: RNA-Seq
Study Type: WT vs. Mutant
Source: ArrayExpress
Publication
First Author: Dawkins JB
Year: 2016
Journal: Cancer Res
Title: Reduced Expression of Histone Methyltransferases KMT2C and KMT2D Correlates with Improved Outcome in Pancreatic Ductal Adenocarcinoma.
Volume: 76
Issue: 16
Pages: 4861-71
Publication
First Author: Wang G
Year: 2020
Journal: Cancer Discov
Title: CRISPR-GEMM Pooled Mutagenic Screening Identifies KMT2D as a Major Modulator of Immune Checkpoint Blockade.
Volume: 10
Issue: 12
Pages: 1912-1933
Protein Domain
Type: Domain
Description: The extended plant homeodomain (ePHD) zinc finger is characterized as Cys2HisCys5HisCys2His. KMT2D, also known as ALR or MLL4, is a fourth human homologue of Drosophila trithorax, located on chromosome 12 []. KMT2D enzymatically generates trimethylated histone H3 at Lys 4 (H3K4me3). It acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription []. It is also a part of activating signal cointegrator-2 (ASC-2)-containing complex (ASCOM) that contains the transcriptional coactivator nuclear receptor coactivator 6 (NCOA6), KMT2C and KMT2D. The ASCOM complex is critical for nuclear receptor (NR) activation of bile acid transporter genes and is down regulated in cholestasis []. KMT2D contains the catalytic domain SET, five PHD fingers, two ePHD fingers, a RING finger, an HMG (high-mobility group)-binding motif, and two FY-rich regions.Mutations in the KMT2D gene have been linked to Kabuki syndrome [, ].This entry represents the second ePHD finger of Histone-lysine N-methyltransferase 2D (KMT2D).
Protein Domain
Type: Domain
Description: This entry represents the first ePHD finger of Histone-lysine N-methyltransferase 2D (KMT2D).The extended plant homeodomain (ePHD) zinc finger is characterized as Cys2HisCys5HisCys2His. KMT2D, also known as ALR or MLL4, is a fourth human homologue of Drosophila trithorax, located on chromosome 12 []. KMT2D enzymatically generates trimethylated histone H3 at Lys 4 (H3K4me3). It acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription []. It is also a part of activating signal cointegrator-2 (ASC-2)-containing complex (ASCOM) that contains the transcriptional coactivator nuclear receptor coactivator 6 (NCOA6), KMT2C and KMT2D. The ASCOM complex is critical for nuclear receptor (NR) activation of bile acid transporter genes and is down regulated in cholestasis []. KMT2D contains the catalytic domain SET, five PHD fingers, two ePHD fingers, a RING finger, an HMG (high-mobility group)-binding motif, and two FY-rich regions.Mutations in the KMT2D gene have been linked to Kabuki syndrome [, ].
Publication
First Author: Adam MP
Year: 2019
Journal: J Med Genet
Title: Kabuki syndrome: international consensus diagnostic criteria.
Volume: 56
Issue: 2
Pages: 89-95
Publication
First Author: Paulussen AD
Year: 2011
Journal: Hum Mutat
Title: MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Volume: 32
Issue: 2
Pages: E2018-25
Publication
First Author: Bouchard C
Year: 2018
Journal: Cell Rep
Title: Genomic Location of PRMT6-Dependent H3R2 Methylation Is Linked to the Transcriptional Outcome of Associated Genes.
Volume: 24
Issue: 12
Pages: 3339-3352
Publication
First Author: Skvortsova K
Year: 2019
Journal: Cancer Cell
Title: DNA Hypermethylation Encroachment at CpG Island Borders in Cancer Is Predisposed by H3K4 Monomethylation Patterns.
Volume: 35
Issue: 2
Pages: 297-314.e8
Publication
First Author: Prasad R
Year: 1997
Journal: Oncogene
Title: Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax.
Volume: 15
Issue: 5
Pages: 549-60
Publication
First Author: Rivas MA
Year: 2021
Journal: Nat Immunol
Title: Smc3 dosage regulates B cell transit through germinal centers and restricts their malignant transformation.
Volume: 22
Issue: 2
Pages: 240-253
Publication  
First Author: Solich J
Year: 2021
Journal: Int J Mol Sci
Title: MicroRNA Let-7e in the Mouse Prefrontal Cortex Differentiates Restraint-Stress-Resilient Genotypes from Susceptible Genotype.
Volume: 22
Issue: 17
Publication
First Author: Fantini D
Year: 2018
Journal: Oncogene
Title: A Carcinogen-induced mouse model recapitulates the molecular alterations of human muscle invasive bladder cancer.
Volume: 37
Issue: 14
Pages: 1911-1925
Publication  
First Author: Fagan RJ
Year: 2019
Journal: Cancer Lett
Title: COMPASS Ascending: Emerging clues regarding the roles of MLL3/KMT2C and MLL2/KMT2D proteins in cancer.
Volume: 458
Pages: 56-65